ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.616G>A (p.Ala206Thr)

dbSNP: rs141093002
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647466 SCV000769262 uncertain significance Neuroblastoma, susceptibility to, 3 2024-01-30 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 206 of the ALK protein (p.Ala206Thr). This variant is present in population databases (rs141093002, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ALK-related conditions. ClinVar contains an entry for this variant (Variation ID: 538257). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sema4, Sema4 RCV002255491 SCV002528533 likely benign Hereditary cancer-predisposing syndrome 2021-05-20 criteria provided, single submitter curation
Ambry Genetics RCV002530488 SCV003716947 uncertain significance Inborn genetic diseases 2022-09-14 criteria provided, single submitter clinical testing The c.616G>A (p.A206T) alteration is located in exon 1 (coding exon 1) of the ALK gene. This alteration results from a G to A substitution at nucleotide position 616, causing the alanine (A) at amino acid position 206 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003488760 SCV004238573 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing

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